Author

Tanguy Demaret

Université de MontréalORCID 0000-0001-7605-9031Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexandre JaneriD· 1 shared André MégarbanéiD· 1 shared Bernard BraisiD· 1 shared Eric A. ShoubridgeiD· 1 shared Erin O’FerralliD· 1 shared Gabrielle MacaroniD· 1 shared Grant A. MitchelliD· 1 shared Hana AntonickáiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandre JanerORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 17, 2025

AMPD2 deficiency causes variable-onset Leigh syndrome and implicates cytosolic purine balance in the structural preservation of respiratory complex V

Justin Simo, Alexandre Janer, Hana Antonická…·Roberta La Piana

This paper identifies bi-allelic AMPD2 variants as a cause of Leigh syndrome, showing they lead to complex V assembly defects and cytosolic purine imbalance.

DOI 10.1101/2025.09.17.25335877

humanwhole-genome sequencing

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